ESPE Abstracts (2016) 86 P-P2-868

Pubertal Development and Final Height in Some Rare Genetic Diseases

Laura Mazzanti, Celeste Casto, Federica Tamburrino, Annamaria Perri, Monica Guidetti & Scarano Emanuela

Pediatric Endocrinology and Rare Diseases Unit, Department of Pediatrics, S. Orsola-Malpighi University Hospital-University of Bologna, Bologna, Italy

Background: Pubertal growth, age of puberty onset and pubertal spurt duration are correlated to final height (FH). Few data are available in subjects with rare genetic syndromes.

Objective and hypotheses: To evaluate pubertal pattern and its influence on FH in subjects with different genetic syndromes including the effect of GH-therapy for GH deficiency (GHD) and GnRH analogs for precocious puberty (PP).

Method: We studied for growth and pubertal development 30 patients affected by genetic conditions with molecularly confirmed diagnosis: Kabuki Syndrome (KS) (3 pts), Silver-Russel Syndrome (SRS) (9 pts), Williams Syndrome (WS) (11 pts), 22qdel (7 pts), followed-up until the FH in comparison with the General Population (GP).

Results: Sixteen patients were treated with GH-therapy for an average period of 7.2 years (range 2.7–14.5). In the females long-term GH-therapy resulted in a positive height response compared with untreated patients. While GH-treated males reached a mean FH significantly lower than non-treated ones (P=0.03) (SDS −2.8 vs −1.3 SDS). PP was observed in 8 females, who were treated with GnRH analogue for 3.3 years (range 1–4.6), no significant differences were observed in the FH between treated and untreated pts. In del22q11 subjects the pubertal pattern was similar to that of the GP. SRS and WS subjects showed a shorter and lowered pubertal growth spurt and the peak height velocity was anticipated of 1 or 2 years than in the GP. This pubertal pattern leaded to a pubertal height gain of 10 cm lesser than in the GP of the same age and sex. Pubertal height gain slightly correlated with the FH (P=0.05).

Conclusion: In SRS, WS and KS subjects early pubertal development and the inadequate pubertal growth contribute to an impaired FH. In GHD subjects, GH-therapy seems to improve FH, while the effects of GnRH analogue therapy were not so satisfying.

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